title: Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
abstract: Bohring-Opitz syndrome (BOS) is a rare congenital disorder of unknown etiology diagnosed on the basis of distinctive clinical features. We suggest diagnostic criteria for this condition, describe ten previously unreported patients, and update the natural history of four previously reported patients. This is the largest series reported to date, providing a unique opportunity to document the key clinical features and course through childhood. Investigations undertaken to try and elucidate the underlying pathogenesis of BOS using array comparative genomic hybridization and tandem mass spectrometry of cholesterol precursors did not show any pathogenic changes responsible.
authors.affiliation: Clinical Genetics Department, Univerity Hospitals NHS Foundation Trust, St Michael's Hospital, Bristol, UK.
authors.forename: Rob
authors.initials: R
authors.lastname: Hastings
authors.forename: Jan-Maarten
authors.initials: JM
authors.lastname: Cobben
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Judith
authors.initials: J
authors.lastname: Goodship
authors.forename: Hanne
authors.initials: H
authors.lastname: Hove
authors.forename: Susanne
authors.initials: S
authors.lastname: Kjaergaard
authors.forename: Helena
authors.initials: H
authors.lastname: Kemp
authors.forename: Helen
authors.initials: H
authors.lastname: Kingston
authors.forename: Peter
authors.initials: P
authors.lastname: Lunt
authors.forename: Sahar
authors.initials: S
authors.lastname: Mansour
authors.forename: Ruth
authors.initials: R
authors.lastname: McGowan
authors.forename: Kay
authors.initials: K
authors.lastname: Metcalfe
authors.forename: Catherine
authors.initials: C
authors.lastname: Murdoch-Davis
authors.forename: Mary
authors.initials: M
authors.lastname: Ray
authors.forename: Marlène
authors.initials: M
authors.lastname: Rio
authors.forename: Sarah
authors.initials: S
authors.lastname: Smithson
authors.forename: John
authors.initials: J
authors.lastname: Tolmie
authors.forename: Peter
authors.initials: P
authors.lastname: Turnpenny
authors.forename: Bregje
authors.initials: B
authors.lastname: van Bon
authors.forename: Dagmar
authors.initials: D
authors.lastname: Wieczorek
authors.forename: Ruth
authors.initials: R
authors.lastname: Newbury-Ecob
mesh_terms: D002675:Child, Preschool; D002784:Cholesterol / Q000096:biosynthesis*; D055028:Comparative Genomic Hybridization; D003398:Craniosynostoses / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008297:Male
chemical_list: D002784:Cholesterol